Discordant phenotype caused by CASK mutation in siblings with NF1

With the advent of next-generation sequencing (NGS), a blended phenotype has been shown to be caused by multilocus molecular diagnosis. Here, we present siblings of neurofibromatosis type 1 (NF1) with discordant phenotypes. Further genetic investigation revealed that the younger sister had trisomy 8...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Murakami, Hiroaki, Kimura, Yuichi, Enomoto, Yumi, Tsurusaki, Yoshinori, Akahira-Azuma, Moe, Kuroda, Yukiko, Tsuji, Megumi, Goto, Tomohide, Kurosawa, Kenji
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6486584/
https://ncbi.nlm.nih.gov/pubmed/31044082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0051-0
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